Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Abnormal autonomic nervous system physiology, Hypothermia, Cardiac arrest |
ORPHA:168593 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... |
OMIM:601419 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Optic atrophy, Abnormal autonomic nervous system physiology, Hypothermia |
OMIM:614498 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level, Abnormal autono... |
ORPHA:441 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... |
ORPHA:226313 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... |
ORPHA:276580 |
Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atriovent... |
ORPHA:60041 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Timothy Syndrome |
|
Prolonged QT interval, Hypothermia, Ventricular tachycardia, Atrioventricular block, Bradycardia,... |
OMIM:601005 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Hypothermia |
OMIM:614654 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal autonomic nervous system ... |
ORPHA:330001 |
Primary Erythromelalgia |
|
Vasculitis, Hypothermia |
ORPHA:90026 |
Tetanus |
|
Fever, Tachycardia, Hypertension, Bradycardia, Abnormal autonomic nervous system physiology, Auto... |
ORPHA:3299 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Hypothermia |
ORPHA:29822 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Fever, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... |
ORPHA:730 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... |
ORPHA:276575 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Reduced left ventricular ejection fra... |
OMIM:616501 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Simplified gyral pattern, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension |
ORPHA:70587 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:613730 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Cln3 Disease |
|
T-wave inversion, Optic atrophy, Bradycardia, Increased circulating androgen concentration |
ORPHA:228346 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypothermia, Hyperinsulinemia, Syncope, Orthostatic syncope |
ORPHA:230 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Simplified gyral pattern, Bradycardia, Atrioventricular block |
OMIM:614407 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Hypothermia, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618775 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypothermia, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Hypothermia, Pituitary hypothyroidism, Bradycardia, ... |
ORPHA:90674 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola... |
OMIM:223360 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Meningococcal Meningitis |
|
Shock, Papilledema, Fever, Hypothermia, Hypotension |
ORPHA:33475 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Hypothermia, Increased circulating free fatty acid level, Dil... |
ORPHA:26793 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:276556 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... |
OMIM:608836 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, A... |
OMIM:609286 |
Cat-Eye Syndrome |
|
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Facial palsy, Hypotherm... |
ORPHA:31826 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer... |
OMIM:232200 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia, Hypothermia |
OMIM:608800 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph... |
OMIM:232220 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia |
OMIM:614702 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly |
OMIM:619053 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati... |
OMIM:618805 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Illum Syndrome |
|
Temperature instability, Bradycardia |
OMIM:208155 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Neuroleptic Malignant Syndrome |
|
Fever, Tachycardia, Hypothermia, Pulmonary embolism, Hypertension, Bradycardia, Abnormal autonomi... |
ORPHA:94093 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Sudden cardiac death, Hypothermia, Precocious puberty, Hypertens... |
ORPHA:58 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Microphthalmia |
ORPHA:858 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:611561 |
Sheehan Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... |
ORPHA:91355 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal sp... |
ORPHA:2470 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hypospadias |
ORPHA:141333 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... |
ORPHA:263455 |
Menkes Disease |
|
Intracranial hemorrhage, Hypothermia |
OMIM:309400 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... |
ORPHA:293964 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal nerve morphology, Syncope,... |
ORPHA:221098 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Optic atrophy, Hypothermia |
OMIM:618493 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Hypothermia, Abnormal autonomic ner... |
ORPHA:99027 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Tachycardia, Malignant hyperthermia, Hypercapnia |
OMIM:601887 |
Congenital Enterovirus Infection |
|
Fever, Hypothermia, Myocarditis, Cardiomyopathy, Hypotension |
ORPHA:292 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Hyperinsulinemia, ... |
OMIM:613327 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... |
ORPHA:2298 |
Joubert Syndrome 22 |
|
Microphthalmia, Renal hypoplasia |
OMIM:615665 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Hypertension, Hypogonadism, Abnormal autonomic nervous system ph... |
ORPHA:97229 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Sepsis In Premature Infants |
|
Fever, Tachycardia, Cyanosis, Bradycardia, Hypotension, Temperature instability |
ORPHA:90051 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hypothermia |
OMIM:618329 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Unilateral microphthalmos |
OMIM:615085 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidu... |
ORPHA:293987 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... |
ORPHA:449395 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Necrotizing Enterocolitis |
|
Shock, Temperature instability, Bradycardia, Hypotension |
ORPHA:391673 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Decreased nerve conduction velocity, Optic disc pallor, Bradycardia |
ORPHA:565624 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... |
ORPHA:464329 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Cardiac arrest, Hypothermia, Dilated cardiomyopathy, Hypotension |
ORPHA:20 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia |
ORPHA:40366 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro... |
ORPHA:85284 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
ORPHA:280365 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Nephrolithiasi... |
ORPHA:79259 |
D-Glyceric Aciduria |
|
Bradycardia, Optic nerve hypoplasia |
OMIM:220120 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypot... |
ORPHA:488632 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... |
OMIM:246200 |
Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly |
OMIM:619185 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Microphthalmia |
ORPHA:1473 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Cardiac conduction abnormality, Hypothermia, Dilated cardiomyopathy, Optic atrophy, Hypert... |
ORPHA:255210 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia |
ORPHA:79237 |
Von Hippel-Lindau Disease |
|
Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocr... |
ORPHA:892 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Temperature instability, Abnormal autonomic nervous system physiology |
OMIM:618049 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Multiple System Atrophy |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:102 |
Wolfram Syndrome, Mitochondrial Form |
|
Diabetes mellitus, Optic atrophy, Abnormal autonomic nervous system physiology, Diabetes insipidus |
OMIM:598500 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Fever, Hyperpyrexia, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car... |
ORPHA:563 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:98933 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
H Syndrome |
|
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis |
OMIM:602342 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:611134 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females |
ORPHA:528 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Hepatic cysts, Ureteral hypoplasia, Periportal fibrosis,... |
ORPHA:79328 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
OMIM:608594 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Fever, Tachycardia, Cyanosis |
ORPHA:330012 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Encephalitis Lethargica |
|
Fever, Bradycardia |
ORPHA:83600 |
Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Optic atrophy, Pulm... |
ORPHA:79282 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Portal hypertension |
OMIM:251880 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Fever, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimo... |
ORPHA:83601 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Intermittent hypothermia, Hypotension |
OMIM:608643 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation, Aganglionic megacolon, Decreased heart rate variability, H... |
OMIM:209880 |
Marburg Hemorrhagic Fever |
|
Shock, Fever, Tachycardia, Pericarditis, Hypothermia, Hypovolemia, Capillary leak, Subconjunctiva... |
ORPHA:99826 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Nephroblastoma |
OMIM:602501 |
Lujo Hemorrhagic Fever |
|
Shock, Fever, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Adrenocorticotropin... |
OMIM:231550 |
Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:227510 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Biliary tract abnormality |
ORPHA:3191 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... |
ORPHA:116 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... |
ORPHA:99827 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... |
OMIM:306955 |
Trisomy 13 |
|
Anophthalmia, Displacement of the urethral meatus, Abnormality of the ureter, Aplasia/Hypoplasia ... |
ORPHA:3378 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Pachygyria, Simplified gyral pattern, Sinus bradycardia |
OMIM:618397 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Bradycardia |
ORPHA:70 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret... |
OMIM:609053 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen |
OMIM:602361 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropenis, Right ventricular hype... |
ORPHA:335 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... |
ORPHA:71212 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Recurrent fever, Sinus bradycardia |
OMIM:261990 |
Sarcoidosis |
|
Fever, Abnormal cardiac ventricular function, Hyperthyroidism, Diabetes insipidus, Facial palsy, ... |
ORPHA:797 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Hypothermia, Syncope, Recurrent fever, Unex... |
ORPHA:642 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cyanosis, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricul... |
ORPHA:860 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertrophic cardiomyopathy, Hypothermia |
ORPHA:17 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Fever, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis... |
ORPHA:137675 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... |
OMIM:614105 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Renal hypoplasia |
OMIM:618914 |
Leukodystrophy, Hypomyelinating, 12 |
|
Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology, Temperature inst... |
OMIM:616683 |
Variant Abeta2M Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia |
OMIM:613155 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Palpitations, Goiter |
OMIM:188580 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:610756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicul... |
OMIM:300855 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Cyanosis, Right ventricular failure, Third heart ... |
ORPHA:1329 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Melkersson-Rosenthal Syndrome |
|
Fever, Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney |
OMIM:617244 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microphthalmia |
OMIM:612379 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia |
ORPHA:79086 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Acrocyanosis, Recurrent fever |
OMIM:223900 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Menkes Disease |
|
Intracranial hemorrhage, Gastrointestinal hemorrhage, Hypothermia |
ORPHA:565 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Cardiomegaly |
OMIM:618652 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias |
ORPHA:77298 |
Refsum Disease |
|
Splenomegaly, Microphthalmia, Renal insufficiency |
ORPHA:773 |
Rett Syndrome |
|
Failure to thrive, Cholecystitis, Increased serum leptin |
ORPHA:778 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux |
OMIM:120200 |
Porphyria Variegata |
|
Tachycardia, Neurogenic bladder, Hypertension, Abnormal autonomic nervous system physiology, Inap... |
ORPHA:79473 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Hepatopulmonary fusion, Enlarged kidney, Patent urachus, Micropenis, Penoscrota... |
OMIM:618280 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Horseshoe kidney, Hydronephrosis, Abnormal liver lobulation, Multi... |
ORPHA:99776 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi... |
ORPHA:2538 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Cat Eye Syndrome |
|
Renal agenesis, Biliary atresia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Hydrone... |
OMIM:115470 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Microphthalmia, Hypospadias |
ORPHA:494344 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Marden-Walker Syndrome |
|
Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia |
OMIM:248700 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnormal... |
ORPHA:438213 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ves... |
OMIM:607323 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... |
ORPHA:564 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Bradycardia |
ORPHA:97297 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:248370 |
Fatal Familial Insomnia |
|
Fever, Abnormal autonomic nervous system physiology |
OMIM:600072 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Oligosacchariduria |
ORPHA:163649 |
Yellow Fever |
|
Shock, Fever, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ... |
ORPHA:99829 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias |
ORPHA:1692 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia, Hydronephrosis |
OMIM:243605 |
Moebius Syndrome |
|
Microphthalmia, Micropenis |
OMIM:157900 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnor... |
ORPHA:79474 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Micropenis |
OMIM:243310 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasi... |
OMIM:601186 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... |
OMIM:227650 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
OMIM:256800 |
Infantile Neuroaxonal Dystrophy |
|
Temperature instability, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... |
ORPHA:35069 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic isle... |
OMIM:312870 |
Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney |
OMIM:603467 |
Micro Syndrome |
|
Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Meckel Syndrome 14 |
|
Microphthalmia, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Adams-Oliver Syndrome |
|
Microphthalmia, Congenital hepatic fibrosis, Cirrhosis, Portal hypertension |
ORPHA:974 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Recurrent urinary tract infections |
OMIM:611961 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia |
OMIM:600901 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis |
ORPHA:568 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Micropenis, Micro... |
OMIM:227646 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Warburg Micro Syndrome 4 |
|
Microphthalmia, Micropenis |
OMIM:615663 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Joubert Syndrome 14 |
|
Microphthalmia, Renal cyst |
OMIM:614424 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Multicystic kidney dysplasia |
ORPHA:3301 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:2328 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... |
OMIM:609049 |
Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Micropenis |
OMIM:614222 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Renal hypoplasia, Macronodu... |
OMIM:620005 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Micropenis, Renal agenesis, Renal hypoplasia |
OMIM:264480 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Hypogonadism, Abno... |
ORPHA:3463 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, D... |
ORPHA:404454 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:97355 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Male urethral meatus stenosis, Microphthalmia, Cholelithiasis, Hydronephrosis |
ORPHA:464738 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ... |
ORPHA:2092 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... |
ORPHA:959 |
Joubert Syndrome 2 |
|
Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Walker-Warburg Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:899 |
Steinfeld Syndrome |
|
Microphthalmia, Unilateral renal dysplasia, Absent gallbladder |
OMIM:184705 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... |
ORPHA:90324 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Hydronephrosis |
ORPHA:35173 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia, Unexplained fevers |
ORPHA:79404 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Micropenis |
OMIM:241410 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia |
OMIM:227645 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Hypospadias, Horseshoe kidney |
ORPHA:65286 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Microphthalmia, Hydronephrosis |
ORPHA:2059 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Hypospadias |
ORPHA:2505 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... |
OMIM:251300 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Renal dysplasia |
OMIM:618571 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... |
OMIM:115310 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Micropenis, Abnormality of the urinary system |
OMIM:244300 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:614225 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Microphthalmia, Penoscrotal transposition, Hypospadias |
OMIM:619148 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Hydronephrosis |
OMIM:302960 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropht... |
ORPHA:508498 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Abnormal autonomic nervous system physiology, Hypotension |
ORPHA:93256 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Martsolf Syndrome 1 |
|
Microphthalmia, Micropenis |
OMIM:212720 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... |
OMIM:249000 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Microphthalmia, Hydronephrosis |
ORPHA:250989 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia |
ORPHA:3412 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Abnormal autonomic nervous system physiology |
OMIM:617903 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Absent gallbladder |
ORPHA:3186 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Temperature instability, Sinus bradycardia |
OMIM:619482 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis |
OMIM:206900 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:284160 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Acute Transverse Myelitis |
|
Fever, Orthostatic hypotension, Abnormality of temperature regulation, Subarachnoid hemorrhage, H... |
ORPHA:139417 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Renal cyst, Polyspl... |
OMIM:229850 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Micropenis |
OMIM:614230 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn... |
ORPHA:2131 |
Jacobsen Syndrome |
|
Microphthalmia, Annular pancreas, Macular hypoplasia, Hypospadias |
OMIM:147791 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Abnormal autonomic nervous system physiology, Hypothyroidism, Recurrent ... |
ORPHA:453499 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Ectopic kidney |
ORPHA:268249 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr... |
ORPHA:2166 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Turner Syndrome |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Degcags Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnorma... |
OMIM:619488 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Hydronephrosis |
ORPHA:2839 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Renal cyst, Vesicoureteral reflux, Microphthalmia, Annular pancreas |
OMIM:616975 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... |
ORPHA:191 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:2250 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Renal agenesis, Urethral atresia |
OMIM:273395 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypoplasia of the iris, Microphthal... |
OMIM:133540 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Unilateral microphthalmos |
OMIM:618874 |
Cousin Syndrome |
|
Microphthalmia, Hydronephrosis |
OMIM:260660 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Abnormality of the uri... |
ORPHA:2162 |
Trisomy 18 |
|
Microphthalmia, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Nmda Receptor Encephalitis |
|
Fever, Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Abnormal autonom... |
ORPHA:217253 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Micropenis |
OMIM:300895 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia |
OMIM:236670 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Abnormal autonomic nervous system physiology |
ORPHA:171695 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Micropenis, Absent gallbladder |
OMIM:617925 |
Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:168600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology |
ORPHA:247234 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, V... |
ORPHA:567 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph... |
ORPHA:468631 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia |
OMIM:253800 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Hypospadias |
OMIM:223370 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Micropenis, Chordee, Hypospadias |
OMIM:309801 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o... |
ORPHA:141099 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Monosomy 9Q22.3 |
|
Microphthalmia, Nephroblastoma |
ORPHA:77301 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... |
ORPHA:740 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Micropenis, Ectopic kidney |
OMIM:263650 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Annular pancreas |
OMIM:268400 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia, Horseshoe kidney |
ORPHA:1106 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia, Micropenis, Hypospadias, Horseshoe kidney |
OMIM:609945 |
Holoprosencephaly 9 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Abdominal situs inversus |
ORPHA:2108 |
Roberts Syndrome |
|
Microphthalmia, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Hallermann-Streiff Syndrome |
|
Microphthalmia |
OMIM:234100 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Oculodentodigital Dysplasia |
|
Microphthalmia, Neurogenic bladder |
OMIM:164200 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Micropenis, Hypospadias |
OMIM:603457 |
Monosomy 9P |
|
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias |
ORPHA:261112 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U... |
ORPHA:2052 |
Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia |
ORPHA:50 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Incontinentia Pigmenti |
|
Microphthalmia |
ORPHA:464 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:308300 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Charge Syndrome |
|
Anophthalmia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis, Hydronephrosis |
ORPHA:138 |
Treacher-Collins Syndrome |
|
Microphthalmia, Hypoplasia of penis |
ORPHA:861 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Hypospadias, Ureterocele |
OMIM:616734 |
Aicardi Syndrome |
|
Hepatoblastoma, Microphthalmia |
OMIM:304050 |
Renpenning Syndrome 1 |
|
Microphthalmia, Hypospadias, Renal hypoplasia, Phimosis |
OMIM:309500 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Homocystinuria |
OMIM:601552 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Microphthalmia |
ORPHA:2556 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Right ventricular hypertrophy, Prolonged neonatal jaundice |
OMIM:620186 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Horseshoe kidney, Aniridia, Microphthalmia, Bifid ureter, Hyd... |
OMIM:305600 |
Yunis-Varon Syndrome |
|
Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hypertension, Renal artery sten... |
ORPHA:3472 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid, Recurrent fever |
ORPHA:3206 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Microphthalmia, Hypospadias, Hydronephrosis |
OMIM:236680 |
Liver Disease, Severe Congenital |
|
Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemia |
OMIM:619991 |
Leprosy |
|
Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology... |
ORPHA:548 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral microphth... |
ORPHA:508488 |
Trichothiodystrophy |
|
Bilateral microphthalmos |
ORPHA:33364 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... |
OMIM:219000 |
Charge Syndrome |
|
Anophthalmia, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Micr... |
OMIM:214800 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Phthisis bulbi, Anophthalmia, Hypospadias |
OMIM:300166 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Micropenis |
OMIM:613884 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Fontaine Progeroid Syndrome |
|
Left ventricular hypertrophy, Microphthalmia, Micropenis |
OMIM:612289 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Long penis, Biliary tract abnormality, Horseshoe kidney, Polycysti... |
OMIM:268300 |
Mend Syndrome |
|
Microphthalmia |
ORPHA:401973 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Myhre Syndrome |
|
Microphthalmia |
OMIM:139210 |
Pallister-Hall Syndrome |
|
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Microphthalmia,... |
ORPHA:672 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis |
OMIM:236100 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Renal hypoplasia |
OMIM:607932 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Chordee,... |
ORPHA:261537 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia |
OMIM:113620 |
Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Phimosis, Male urethral meatus stenosis, Microphallus, Microphthalmia |
OMIM:613406 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the... |
ORPHA:2152 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia, Renal agenesis |
OMIM:256520 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Duplicat... |
ORPHA:261552 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma |
OMIM:619539 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... |
OMIM:164210 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia |
OMIM:100300 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Hypospadias, Abnormality of the kidney |
OMIM:235730 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hypoplasia, Microphthalmia |
OMIM:309800 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |